A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604145



Internal ID6991175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16993005..17005961hg38UCSC Ensembl
Innerchr5:16993024..17005943hg38UCSC Ensembl
Outerchr5:16992987..17005980hg38UCSC Ensembl
chr5:16993114..17006070hg19UCSC Ensembl
Innerchr5:16993133..17006052hg19UCSC Ensembl
Outerchr5:16993096..17006089hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3812957
hg1912957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11821238
SamplesHG02805
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604145
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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